Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-19231555-A-G p.Ser409Ser synonymous ABHD3 1 83322 1.20016E-5 41661 0 1.2734E-4
18-19231562-T-A p.Glu407Val missense ABHD3 1 83312 1.20031E-5 41656 0 1.64872E-5
18-19231573-C-T p.Glu403Glu synonymous ABHD3 1 83282 1.20074E-5 41641 0 NA
18-19231580-A-G p.Met401Thr missense ABHD3 1 83284 1.20071E-5 41642 0 3.97776E-6
18-19231587-G-A p.Gln399* stop_gained ABHD3 1 83262 1.20103E-5 41631 0 NA
18-19231594-T-C p.Gln396Gln synonymous ABHD3 2 83260 2.40211E-5 41630 0 NA
18-19231599-T-G p.Lys395Gln missense ABHD3 1 83268 1.20094E-5 41634 0 5.77196E-5
18-19231607-C-T p.Arg392His missense ABHD3 1 83290 1.20062E-5 41645 0 3.18512E-5
18-19231613-A-G p.Met390Thr missense ABHD3 28 83290 3.36175E-4 41645 0 2.5481E-4
18-19231615-G-A p.Tyr389Tyr synonymous ABHD3 3 83292 3.60179E-5 41646 0 1.81434E-4
18-19231639-T-C p.Gly381Gly synonymous ABHD3 4 83272 4.80354E-5 41636 0 9.55292E-5
18-19231643-TC-T p.Glu380fs frameshift ABHD3 2 83266 2.40194E-5 41633 0 NA
18-19231647-GA-G p.Leu379fs frameshift ABHD3 2 83264 2.402E-5 41632 0 NA
18-19231655-A-G p.Ile376Thr missense ABHD3 3 83256 3.60334E-5 41628 0 0.00143276
18-19231666-A-G p.Tyr372Tyr synonymous ABHD3 1 83254 1.20114E-5 41627 0 2.50188E-5
18-19231669-A-T p.Ser371Ser synonymous ABHD3 1 83244 1.20129E-5 41622 0 NA
18-19231670-G-A p.Ser371Phe missense ABHD3 7 83246 8.40881E-5 41623 1 0.00100705
18-19231672-A-C p.Thr370Thr synonymous ABHD3 1 83248 1.20123E-5 41624 0 NA
18-19231678-G-C p.Val368Val synonymous ABHD3 2 83244 2.40258E-5 41622 0 8.40492E-6
18-19231716-T-C p.Ile356Val missense ABHD3 1 82704 1.20913E-5 41352 0 9.67399E-6
18-19231728-C-G c.1058-4G>C splice_region ABHD3 1 82218 1.21628E-5 41109 0 1.77145E-5
18-19231732-C-T c.1058-8G>A splice_region ABHD3 1 81964 1.22005E-5 40982 0 1.30523E-4
18-19236835-GA-G p.Phe348fs frameshift ABHD3 1 83026 1.20444E-5 41513 0 NA
18-19236867-C-A p.Val338Leu missense ABHD3 1 83236 1.2014E-5 41618 0 NA
18-19236898-C-T p.Pro327Pro synonymous ABHD3 7 83234 8.41002E-5 41617 0 6.25E-4
18-19236899-G-A p.Pro327Leu missense ABHD3 3 83238 3.60412E-5 41619 0 4.13012E-5
18-19236904-G-A p.Ala325Ala synonymous ABHD3 1 83236 1.2014E-5 41618 0 NA
18-19236923-T-C p.Asp319Gly missense ABHD3 23 83204 2.76429E-4 41602 0 5.73139E-4
18-19236934-G-A p.Tyr315Tyr synonymous ABHD3 3 83196 3.60594E-5 41598 0 NA
18-19236947-A-G p.Val311Ala missense ABHD3 4 83190 4.80827E-5 41595 0 NA
18-19236948-C-T p.Val311Ile missense ABHD3 4 83194 4.80804E-5 41597 0 3.58112E-5
18-19236959-C-T p.Arg307Gln missense ABHD3 2 83188 2.40419E-5 41594 0 3.18735E-5
18-19236960-G-A p.Arg307* stop_gained ABHD3 1 83174 1.2023E-5 41587 0 5.77892E-5
18-19236972-C-T p.Glu303Lys missense ABHD3 1 83158 1.20253E-5 41579 0 NA
18-19236980-G-C p.Ser300Cys missense ABHD3 8 83146 9.62163E-5 41573 0 8.26802E-5
18-19236986-GCCTGAAACACAAAAACAAATTATATCTAGTCTTGCCCAAAAGAAGAAATAAAAGTATTACATAAAGTTTCTCTCCTA-G p.Ala298fs frameshift ABHD3 8 83144 9.62186E-5 41572 1 NA
18-19236994-C-T c.892-7G>A splice_region ABHD3 2 83112 2.40639E-5 41556 0 3.98076E-6
18-19237062-T-C c.891+3A>G splice_region ABHD3 1 81338 1.22944E-5 40669 0 NA
18-19237071-G-GGTAAAATTA p.Val295_Met296insAsnPheThr disruptive_inframe_insertion ABHD3 2 80932 2.47121E-5 40466 0 NA
18-19237073-C-T p.Val295Ile missense ABHD3 2 80808 2.475E-5 40404 0 8.46196E-6
18-19237087-A-G p.Val290Ala missense ABHD3 1 80116 1.24819E-5 40058 0 NA
18-19237088-C-CTTTTAATATA p.Val290fs frameshift ABHD3 6 80068 7.49363E-5 40034 0 8.55696E-6
18-19237090-T-TTTAATATATTGTTATTTTTAAGGAAATATA p.Gln289delinsLeuTyrPheLeuLysAsnAsnAsnIleLeuLys conservative_inframe_insertion ABHD3 1 79972 1.25044E-5 39986 0 NA
18-19237090-TG-T p.Gln289fs frameshift ABHD3 2 79970 2.50094E-5 39985 0 NA
18-19237091-G-GTTAT p.Gln289fs frameshift ABHD3 1 79858 1.25222E-5 39929 0 NA
18-19237091-GTT-G p.Lys288fs frameshift ABHD3 2 79858 2.50445E-5 39929 0 4.06521E-6
18-19237092-T-C p.Lys288Lys synonymous ABHD3 13 79798 1.62911E-4 39899 0 7.31184E-5
18-19237102-A-G p.Met285Thr missense ABHD3 5 79200 6.31313E-5 39600 0 4.3766E-5
18-19237105-T-C p.His284Arg missense ABHD3 1 78886 1.26765E-5 39443 0 NA
18-19237108-C-T p.Arg283Gln missense ABHD3 2 78424 2.55024E-5 39212 0 7.96432E-4
18-19237109-G-A p.Arg283* stop_gained ABHD3 1 78138 1.27979E-5 39069 0 1.24219E-5
18-19237117-G-A c.843-4C>T splice_region ABHD3 2 76834 2.60301E-5 38417 0 NA
18-19239143-G-T p.Ser277Tyr missense ABHD3 4 83350 4.79904E-5 41675 0 6.25E-4
18-19239144-A-G p.Ser277Pro missense ABHD3 2 83350 2.39952E-5 41675 0 NA
18-19239147-G-C p.Gln276Glu missense ABHD3 1 83356 1.19967E-5 41678 0 NA
18-19239154-G-A p.Thr273Thr synonymous ABHD3 633 83348 0.00759466 41674 18 0.0144323
18-19239155-G-A p.Thr273Ile missense ABHD3 1 83360 1.19962E-5 41680 0 NA
18-19239166-G-A p.Tyr269Tyr synonymous ABHD3 1 83382 1.1993E-5 41691 0 NA
18-19239170-T-C p.Asn268Ser missense ABHD3 1 83382 1.1993E-5 41691 0 1.64875E-5
18-19239175-A-T p.Leu266Leu synonymous ABHD3 2 83384 2.39854E-5 41692 0 3.98708E-6
18-19239180-G-A p.Leu265Leu synonymous ABHD3 1 83390 1.19918E-5 41695 0 3.98492E-6
18-19239184-G-A p.Asn263Asn synonymous ABHD3 2 83384 2.39854E-5 41692 0 NA
18-19239185-T-C p.Asn263Ser missense ABHD3 1 83382 1.1993E-5 41691 0 NA
18-19239188-A-G p.Leu262Pro missense ABHD3 1 83380 1.19933E-5 41690 0 3.98213E-6
18-19239192-G-GT p.Pro261fs frameshift ABHD3 1 83386 1.19924E-5 41693 0 NA
18-19239205-C-T p.Glu256Glu synonymous ABHD3 1 83384 1.19927E-5 41692 0 3.9814E-6
18-19239211-GCAAGCGAAGGTGTTC-G p.Trp249_Ala253del disruptive_inframe_deletion ABHD3 1 83388 1.19921E-5 41694 0 NA
18-19239217-G-A p.Phe252Phe synonymous ABHD3 15 83384 1.79891E-4 41692 0 2.78718E-4
18-19239229-A-G p.Gly248Gly synonymous ABHD3 1 83366 1.19953E-5 41683 0 NA
18-19239234-C-T p.Val247Ile missense ABHD3 6 83362 7.19752E-5 41681 0 1.91217E-4
18-19239235-G-A p.Ser246Ser synonymous ABHD3 3 83362 3.59876E-5 41681 0 1.19612E-5
18-19239236-G-A p.Ser246Phe missense ABHD3 1 83362 1.19959E-5 41681 0 NA
18-19239253-C-A p.Met240Ile missense ABHD3 1 83354 1.1997E-5 41677 0 NA
18-19239262-C-T p.Thr237Thr synonymous ABHD3 5 83334 5.99995E-5 41667 0 8.25614E-6
18-19239263-G-A p.Thr237Met missense ABHD3 2 83332 2.40004E-5 41666 0 1.59246E-4
18-19239266-T-C p.Lys236Arg missense ABHD3 1 83326 1.20011E-5 41663 0 4.00157E-6
18-19239270-A-G p.Ser235Pro missense ABHD3 1 83312 1.20031E-5 41656 0 8.26419E-6
18-19239275-A-G p.Ile233Thr missense ABHD3 11 83300 1.32053E-4 41650 0 2.22958E-4
18-19239276-T-A p.Ile233Phe missense ABHD3 1 83308 1.20036E-5 41654 0 8.27102E-6
18-19239284-A-G p.Leu230Ser missense ABHD3 4 83286 4.80273E-5 41643 0 5.04032E-4
18-19239285-A-C p.Leu230Val missense ABHD3 2 83290 2.40125E-5 41645 0 3.18431E-5
18-19239295-A-C p.Leu226Leu synonymous ABHD3 56 83254 6.7264E-4 41627 0 0.00117887
18-19243638-C-G c.*627+1G>C splice_donor ABHD3 1 34834 2.87076E-5 17417 0 3.18756E-5
18-19243650-T-C p.Leu24Leu synonymous ABHD3 2 34874 5.73493E-5 17437 0 7.80287E-6
18-19243664-A-G p.Trp20Arg missense ABHD3 718 34936 0.0205519 17468 35 0.0436917
18-19243674-G-A p.Leu16Leu synonymous ABHD3 21 35058 5.99007E-4 17529 0 2.54777E-4
18-19243683-A-G p.Tyr13Tyr synonymous ABHD3 1 35140 2.84576E-5 17570 0 6.37186E-5
18-19243689-G-T p.Ile11Ile synonymous ABHD3 1 35292 2.8335E-5 17646 0 9.3006E-5
18-19243691-T-C p.Ile11Val missense ABHD3 2 35342 5.65899E-5 17671 0 NA
18-19243712-T-A p.Ile4Phe missense ABHD3 2 35884 5.57351E-5 17942 0 1.27405E-4
18-19243718-T-A p.Thr2Ser missense ABHD3 1 36154 2.76595E-5 18077 0 NA
18-19243719-C-T p.Met1? start_lost ABHD3 5 36198 1.38129E-4 18099 0 1.91071E-4
18-19243816-G-A c.-95C>T 5_prime_UTR_premature_start_codon_gain ABHD3 1 47814 2.09144E-5 23907 0 3.18512E-5
18-19243874-G-A c.-153C>T 5_prime_UTR_premature_start_codon_gain ABHD3 5 62544 7.99437E-5 31272 0 NA
18-19243880-A-C c.-159T>G 5_prime_UTR_premature_start_codon_gain ABHD3 1 65692 1.52226E-5 32846 0 3.1839E-5
18-19243894-A-C c.-173T>G 5_prime_UTR_premature_start_codon_gain ABHD3 2 70478 2.83776E-5 35239 0 NA
18-19243900-C-A c.-179G>T 5_prime_UTR_premature_start_codon_gain ABHD3 6 71854 8.35027E-5 35927 0 2.22873E-4
18-19243925-G-A c.-204C>T 5_prime_UTR_premature_start_codon_gain ABHD3 1 75716 1.32072E-5 37858 0 NA
18-19243934-A-G c.-213T>C 5_prime_UTR_premature_start_codon_gain ABHD3 1 76900 1.30039E-5 38450 0 NA
18-19243965-T-C c.-244A>G 5_prime_UTR_premature_start_codon_gain ABHD3 8 79964 1.00045E-4 39982 0 NA
18-19244007-T-C c.-286A>G 5_prime_UTR_premature_start_codon_gain ABHD3 2 82372 2.42801E-5 41186 0 NA
18-19244074-C-T c.668+5G>A splice_region ABHD3 2 83230 2.40298E-5 41615 0 8.83767E-6
18-19244092-C-T p.Val219Ile missense ABHD3 1 83280 1.20077E-5 41640 0 4.05367E-6
18-19244093-C-T p.Gly218Gly synonymous ABHD3 25 83286 3.00171E-4 41643 0 1.33714E-4
18-19244096-T-C p.Ala217Ala synonymous ABHD3 1 83294 1.20057E-5 41647 0 NA
18-19244100-G-T p.Ala216Glu missense ABHD3 1 83298 1.20051E-5 41649 0 4.01316E-6
18-19244100-G-A p.Ala216Val missense ABHD3 1 83298 1.20051E-5 41649 0 8.32542E-6
18-19244105-G-C p.Phe214Leu missense ABHD3 7 83294 8.40397E-5 41647 0 3.18471E-5
18-19244108-AG-A p.Pro213fs frameshift ABHD3 1 83302 1.20045E-5 41651 0 3.18431E-5
18-19244120-G-A p.Tyr209Tyr synonymous ABHD3 2 83314 2.40056E-5 41657 0 1.19376E-5
18-19244126-G-T p.Ser207Arg missense ABHD3 2 83324 2.40027E-5 41662 0 2.38709E-5
18-19244127-C-T p.Ser207Asn missense ABHD3 1 83328 1.20008E-5 41664 0 8.27308E-6
18-19244134-CA-C p.His204fs frameshift ABHD3 3 83324 3.6004E-5 41662 0 6.3674E-5
18-19244136-T-C p.His204Arg missense ABHD3 3 83326 3.60032E-5 41663 0 3.1839E-5
18-19244141-A-C p.Ile202Met missense ABHD3 1 83328 1.20008E-5 41664 0 NA
18-19244157-T-C p.Asp197Gly missense ABHD3 1 83292 1.2006E-5 41646 0 NA
18-19244161-CA-TG p.ThrGlu195ThrLys missense ABHD3 1 83282 1.20074E-5 41641 0 NA
18-19244162-A-G p.Thr195Thr synonymous ABHD3 380 83270 0.00456347 41635 2 0.00926398
18-19244170-CACA-C p.Cys192del conservative_inframe_deletion ABHD3 2 83260 2.40211E-5 41630 0 5.00517E-5
18-19244175-CAAT-C p.Tyr190del disruptive_inframe_deletion ABHD3 2 83250 2.4024E-5 41625 0 NA
18-19244182-T-A p.Thr189Ser missense ABHD3 2 83232 2.40292E-5 41616 0 1.69658E-5
18-19244182-T-C p.Thr189Ala missense ABHD3 2 83232 2.40292E-5 41616 0 NA
18-19244188-G-T p.Pro187Thr missense ABHD3 12 83206 1.4422E-4 41603 0 6.25E-4
18-19244189-C-T p.Thr186Thr splice_region+synonymous ABHD3 3 83204 3.6056E-5 41602 0 8.59771E-6
18-19244193-T-C c.556-2A>G splice_acceptor ABHD3 1 83200 1.20192E-5 41600 0 NA
18-19263743-A-G n.603T>C splice_region ABHD3 1 65562 1.52527E-5 32781 0 NA
18-19263744-T-A n.602A>T splice_region ABHD3 1 65980 1.51561E-5 32990 0 3.24739E-5
18-19263881-C-T p.Leu185Leu splice_region+synonymous ABHD3 3 82456 3.6383E-5 41228 0 3.19632E-5
18-19263896-C-T p.Ala180Ala synonymous ABHD3 3 82614 3.63135E-5 41307 0 0.00100705
18-19263901-C-G p.Val179Leu missense ABHD3 5 82716 6.04478E-5 41358 0 NA
18-19263903-CCT-C p.Gly178fs frameshift ABHD3 1 82742 1.20858E-5 41371 0 6.37674E-5
18-19263906-C-T p.Arg177Lys missense ABHD3 1 82760 1.20831E-5 41380 0 NA
18-19282270-C-T c.509+7G>A splice_region ABHD3 3 82728 3.62634E-5 41364 0 1.98235E-4
18-19282283-C-A p.Gly168Val missense ABHD3 1 83066 1.20386E-5 41533 0 NA
18-19282339-C-T p.Arg126Gln missense ABHD3 1 83268 1.20094E-5 41634 0 5.57254E-5
18-19282378-G-A p.Pro113Leu missense ABHD3 2 83290 2.40125E-5 41645 0 NA
18-19282385-A-G p.Met134Thr missense ABHD3 2 83292 2.40119E-5 41646 0 3.9794E-6
18-19282386-T-C p.Met134Val missense ABHD3 2 83292 2.40119E-5 41646 0 NA
18-19282393-C-T p.Arg108His missense ABHD3 1 83280 1.20077E-5 41640 0 3.18492E-5
18-19282394-G-A p.Thr131Met missense ABHD3 68 83272 8.16601E-4 41636 0 0.00175159
18-19282403-T-C p.Asp128Gly missense ABHD3 2 83280 2.40154E-5 41640 0 9.26534E-5
18-19282405-A-G p.Met104Thr missense ABHD3 1 83278 1.2008E-5 41639 0 9.55475E-5
18-19282410-C-T p.Asp126Asn missense ABHD3 1 83258 1.20109E-5 41629 0 1.7116E-5
18-19282412-A-T p.Phe125Tyr missense ABHD3 2 83262 2.40206E-5 41631 0 NA
18-19282415-C-T p.Trp124* stop_gained ABHD3 1 83254 1.20114E-5 41627 0 8.62351E-6
18-19282420-C-T p.Trp99* stop_gained ABHD3 23 83224 2.76363E-4 41612 1 5.04032E-4
18-19282429-C-G p.Gln119His missense ABHD3 1 83160 1.2025E-5 41580 0 2.70334E-5
18-19282439-T-C p.Asp116Gly missense ABHD3 1 83096 1.20343E-5 41548 0 3.18451E-5
18-19283538-C-A c.326+7G>T splice_region ABHD3 1 83200 1.20192E-5 41600 0 8.25846E-6
18-19283538-CACTT-C c.326+3_326+6delAAGT splice_region ABHD3 1 83200 1.20192E-5 41600 0 NA
18-19283545-T-G p.Asn109Thr missense+splice_region ABHD3 2 83280 2.40154E-5 41640 0 NA
18-19283558-C-T p.Val105Met missense ABHD3 1 83318 1.20022E-5 41659 0 NA
18-19283564-G-A p.Pro103Ser missense ABHD3 1 83320 1.20019E-5 41660 0 3.58195E-5
18-19283564-G-C p.Pro103Ala missense ABHD3 2 83320 2.40038E-5 41660 0 8.24484E-6
18-19283565-C-G p.Lys102Asn missense ABHD3 2 83326 2.40021E-5 41663 0 NA
18-19283592-G-A p.Pro70Leu missense ABHD3 7 83322 8.40114E-5 41661 0 1.81327E-4
18-19283604-AC-A p.Gly89fs frameshift ABHD3 2 83316 2.4005E-5 41658 0 3.18756E-5
18-19283607-C-G p.Glu88Asp missense ABHD3 3 83338 3.5998E-5 41669 0 3.18552E-5
18-19283619-G-C p.Ser61Cys missense ABHD3 112 83320 0.00134422 41660 0 0.010625
18-19283621-C-T p.Val84Ile missense ABHD3 6 83324 7.20081E-5 41662 0 5.03525E-4
18-19283622-C-A p.Arg60Leu missense ABHD3 1 83332 1.20002E-5 41666 0 3.9769E-6
18-19283631-G-A p.Thr57Ile missense ABHD3 1 83328 1.20008E-5 41664 0 3.18512E-5
18-19283642-T-C p.Thr77Ala missense ABHD3 1 83328 1.20008E-5 41664 0 3.97671E-6
18-19283649-G-A c.-804C>T 5_prime_UTR_premature_start_codon_gain ABHD3 1 83328 1.20008E-5 41664 0 3.97681E-6
18-19283649-G-C p.Pro74Pro synonymous ABHD3 3 83328 3.60023E-5 41664 0 3.97681E-6
18-19283658-G-T p.Asp71Glu missense ABHD3 2 83306 2.40079E-5 41653 0 1.91107E-4
18-19283663-G-A p.Gln70* stop_gained ABHD3 2 83310 2.40067E-5 41655 0 1.19314E-5
18-19283672-G-A p.Arg67Cys missense ABHD3 3 83294 3.6017E-5 41647 0 8.25246E-6
18-19283680-C-T p.Ser64Asn missense ABHD3 2 83296 2.40108E-5 41648 0 1.59108E-5
18-19283681-T-C p.Ser64Gly missense ABHD3 1 83292 1.2006E-5 41646 0 NA
18-19283690-C-T p.Gly61Arg missense ABHD3 2 83284 2.40142E-5 41642 0 3.97864E-6
18-19283725-T-C c.-880A>G 5_prime_UTR_premature_start_codon_gain ABHD3 1 83016 1.20459E-5 41508 0 NA
18-19283759-A-G c.-914T>C 5_prime_UTR_premature_start_codon_gain ABHD3 1 81572 1.22591E-5 40786 0 NA
18-19284462-C-T c.162+3G>A splice_region ABHD3 647 75032 0.00862299 37516 10 0.0196292
18-19284463-A-T c.162+2T>A splice_donor ABHD3 1 75112 1.33135E-5 37556 0 NA
18-19284467-T-A p.Lys54* stop_gained ABHD3 1 75996 1.31586E-5 37998 0 NA
18-19284477-G-A p.Ser50Ser synonymous ABHD3 1 76850 1.30124E-5 38425 0 2.74816E-4
18-19284487-T-C p.Tyr47Cys missense ABHD3 1 77344 1.29293E-5 38672 0 3.19877E-5
18-19284500-C-T p.Ala43Thr missense ABHD3 1 77676 1.2874E-5 38838 0 NA
18-19284516-G-T p.Ile37Ile synonymous ABHD3 1 78072 1.28087E-5 39036 0 6.39182E-5
18-19284521-G-A p.Leu36Phe missense ABHD3 1 78196 1.27884E-5 39098 0 NA
18-19284527-A-T p.Leu34Ile missense ABHD3 1 78290 1.2773E-5 39145 0 1.09296E-4
18-19284535-C-A p.Gly31Val missense ABHD3 1 78490 1.27405E-5 39245 0 7.02149E-5
18-19284537-C-T p.Ser30Ser synonymous ABHD3 1 78498 1.27392E-5 39249 0 1.14209E-5
18-19284540-G-A p.Gly29Gly synonymous ABHD3 1 78540 1.27324E-5 39270 0 4.26603E-5
18-19284572-G-A p.Leu19Leu synonymous ABHD3 1 78456 1.2746E-5 39228 0 5.22444E-6
18-19284574-T-C p.Tyr18Cys missense ABHD3 1 78350 1.27632E-5 39175 0 NA
18-19284576-G-T p.Leu17Leu synonymous ABHD3 1 78410 1.27535E-5 39205 0 NA
18-19284589-C-T p.Arg13Gln missense ABHD3 1 78066 1.28097E-5 39033 0 2.79846E-5
18-19284592-G-T p.Ser12Tyr missense ABHD3 76 78062 9.73585E-4 39031 0 0.00183021
18-19284605-G-A p.Leu8Leu synonymous ABHD3 312 77742 0.00401327 38871 2 0.006875
18-19284607-T-C p.Asp7Gly missense ABHD3 4 77672 5.14986E-5 38836 0 NA
18-19284609-C-G p.Met6Ile missense ABHD3 1 77628 1.2882E-5 38814 0 4.53885E-5
18-19284611-T-C p.Met6Val missense ABHD3 1 77560 1.28932E-5 38780 0 NA
18-19284620-G-A p.Arg3Cys missense ABHD3 78 76782 0.00101586 38391 0 0.00107211
18-19284626-T-C p.Met1? start_lost ABHD3 6 76336 7.85999E-5 38168 0 1.97863E-4
18-19284634-G-A c.-8C>T 5_prime_UTR_premature_start_codon_gain ABHD3 2 75470 2.65006E-5 37735 0 NA
18-19284682-G-A c.-56C>T 5_prime_UTR_premature_start_codon_gain ABHD3 1 72232 1.38443E-5 36116 0 NA
18-19284734-G-A c.-108C>T 5_prime_UTR_premature_start_codon_gain ABHD3 1 63856 1.56602E-5 31928 0 NA
18-19284742-T-A c.-116A>T 5_prime_UTR_premature_start_codon_gain ABHD3 1 61884 1.61593E-5 30942 0 NA